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   Articles with "tbr1" as a keyword



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Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity

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recommendations! Published in 2018 at "Neuron"

DOI: 10.1016/j.neuron.2018.09.027

Abstract: An understanding of how heterozygous loss-of-function mutations in autism spectrum disorder (ASD) risk genes, such as TBR1, contribute to ASD remains elusive. Conditional Tbr1 deletion during late mouse gestation in cortical layer 6 neurons (Tbr1layer6… read more here.

Keywords: tbr1 dosage; cortical layer; layer; neonatal tbr1 ... See more keywords

Functional characterization of TBR1 variants in neurodevelopmental disorder

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recommendations! Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-32053-6

Abstract: Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated… read more here.

Keywords: tbr1 variants; functional characterization; protein function; tbr1 ... See more keywords

Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions

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recommendations! Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac311

Abstract: Abstract TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been previously… read more here.

Keywords: tbr1; interaction; interactome variants; characterization tbr1 ... See more keywords

P01.32.B A RECURRENT SINGLE NUCLEOTIDE MUTATION IN TBR1 PROMOTES STEMNESS IN GROUP 4 MEDULLOBLASTOMA

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recommendations! Published in 2025 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noaf193.112

Abstract: Medulloblastoma (MB) is the most common pediatric brain cancer. It arises from the rhombic lip, the germinal zone for the glutamatergic cells of the cerebellum. A unique single-nucleotide mutation (pG275C) in T-box Brain 1 (TBR1),… read more here.

Keywords: tbr1g275c; group; single nucleotide; tbr1 ... See more keywords

Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice

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recommendations! Published in 2019 at "Molecular Autism"

DOI: 10.1186/s13229-019-0257-5

Abstract: BackgroundAutism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, a causative gene of ASD, controls axonal projection… read more here.

Keywords: olfactory bulbs; olfactory; tbr1; neuronal activation ... See more keywords

Dietary zinc supplementation rescues fear-based learning and synaptic function in the Tbr1+/− mouse model of autism spectrum disorders

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recommendations! Published in 2022 at "Molecular Autism"

DOI: 10.1186/s13229-022-00494-6

Abstract: Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by a dyad of behavioural symptoms—social and communication deficits and repetitive behaviours. Multiple aetiological genetic and environmental factors have been identified as causing or increasing… read more here.

Keywords: zinc supplementation; tbr1; zinc; mouse model ... See more keywords